Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0423640
Disease: Right Flank Pain
Right Flank Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1 0.010 None 1.000 1 2015 2015
CUI: C0003578
Disease: Apnea
Apnea
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 262 11 0.100 None 0
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.100 None 0
CUI: C0008031
Disease: Chest Pain
Chest Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 154 7 0.100 None 0
CUI: C0009806
Disease: Constipation
Constipation
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 424 57 0.100 None 0
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.100 None 0
CUI: C0015230
Disease: Exanthema
Exanthema
phenotype Skin and Connective Tissue Diseases Sign or Symptom 251 14 0.100 None 0
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 760 67 0.100 None 0
CUI: C0016382
Disease: Flushing
Flushing
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 83 9 0.100 None 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.100 None 0
CUI: C0027066
Disease: Myoclonus
Myoclonus
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 265 34 0.100 None 0
CUI: C0027497
Disease: Nausea
Nausea
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 161 14 0.100 None 0
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 257 11 0.100 None 0
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 216 12 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 75 37 0.100 None 0
CUI: C0040822
Disease: Tremor
Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 528 52 0.100 None 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.100 None 0
CUI: C0522357
Disease: Vertigo, Paroxysmal
Vertigo, Paroxysmal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 16 0.100 None 0
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 126 4 0.100 None 0
CUI: C4293708
Disease: Recurrent paroxysmal headache
Recurrent paroxysmal headache
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 16 0.100 None 0
CUI: C4476644
Disease: Segmental myoclonic seizures
Segmental myoclonic seizures
phenotype Sign or Symptom 5 0.100 None 0
CUI: C0017181
Disease: Gastrointestinal Hemorrhage
Gastrointestinal Hemorrhage
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Pathologic Function 122 24 0.100 None 0
CUI: C0017639
Disease: Gliosis
Gliosis
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 102 3 0.100 None 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency
phenotype Respiratory Tract Diseases Pathologic Function 315 15 0.100 None 0